{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,4]],"date-time":"2025-02-04T05:05:38Z","timestamp":1738645538429,"version":"3.35.0"},"reference-count":48,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.fr","jhandsurg.org","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Hand Surgery"],"published-print":{"date-parts":[[2025,2]]},"DOI":"10.1016\/j.jhsa.2024.10.001","type":"journal-article","created":{"date-parts":[[2024,11,18]],"date-time":"2024-11-18T23:39:48Z","timestamp":1731973188000},"page":"147-155","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Genome-Wide Association Study and Rare Variant Analysis for Dupuytren Disease in a North American Population"],"prefix":"10.1016","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3551-3266","authenticated-orcid":false,"given":"Louis C.","family":"Grandizio","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diane T.","family":"Smelser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeremy S.","family":"Haley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Delma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joel C.","family":"Klena","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Carey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.jhsa.2024.10.001_bib1","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/j.hcl.2018.03.001","article-title":"The basic science of Dupuytren disease","volume":"34","author":"Zhang","year":"2018","journal-title":"Hand Clin"},{"issue":"10","key":"10.1016\/j.jhsa.2024.10.001_bib2","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1016\/j.jhsa.2021.07.005","article-title":"Dupuytren contractures: an update of recent literature","volume":"46","author":"Boe","year":"2021","journal-title":"J\u00a0Hand Surg Am"},{"issue":"9","key":"10.1016\/j.jhsa.2024.10.001_bib3","doi-asserted-by":"crossref","first-page":"1527","DOI":"10.1016\/j.jhsa.2006.08.012","article-title":"Factors in the pathogenesis of Dupuytren\u2019s contracture","volume":"31","author":"Al-Qattan","year":"2006","journal-title":"J\u00a0Hand Surg Am"},{"issue":"3","key":"10.1016\/j.jhsa.2024.10.001_bib4","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1007\/s11552-008-9160-9","article-title":"Epidemiological evaluation of Dupuytren\u2019s disease incidence and prevalence rates in relation to etiology","volume":"4","author":"Hindocha","year":"2009","journal-title":"Hand (N Y)"},{"issue":"4","key":"10.1016\/j.jhsa.2024.10.001_bib5","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1056\/NEJMoa1101029","article-title":"Wnt signaling and Dupuytren's disease","volume":"365","author":"Dolmans","year":"2011","journal-title":"N\u00a0Engl J Med"},{"issue":"10","key":"10.1016\/j.jhsa.2024.10.001_bib6","doi-asserted-by":"crossref","first-page":"2106","DOI":"10.1016\/j.jhsa.2012.07.017","article-title":"Dupuytren diathesis and genetic risk","volume":"37","author":"Dolmans","year":"2012","journal-title":"J\u00a0Hand Surg Am"},{"issue":"12","key":"10.1016\/j.jhsa.2024.10.001_bib7","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1016\/j.jhsa.2010.08.008","article-title":"Genome-wide association scan of Dupuytren\u2019s disease","volume":"35","author":"Ojwang","year":"2010","journal-title":"J\u00a0Hand Surg Am"},{"issue":"3","key":"10.1016\/j.jhsa.2024.10.001_bib8","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.ajhg.2017.08.006","article-title":"A\u00a0genome-wide association study of Dupuytren disease reveals 17 additional variants implicated in fibrosis","volume":"101","author":"Ng","year":"2017","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.jhsa.2024.10.001_bib9","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.jbspin.2011.05.027","article-title":"Genetics of Dupuytren\u2019s disease","volume":"79","author":"Michou","year":"2012","journal-title":"Jt Bone Spine"},{"issue":"2","key":"10.1016\/j.jhsa.2024.10.001_bib10","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/j.jhsa.2005.09.018","article-title":"The heritability of Dupuytren\u2019s disease: familial aggregation and its clinical significance","volume":"31","author":"Hindocha","year":"2006","journal-title":"J\u00a0Hand Surg Am"},{"issue":"8","key":"10.1016\/j.jhsa.2024.10.001_bib11","doi-asserted-by":"crossref","first-page":"1597","DOI":"10.1016\/j.jhsa.2015.04.036","article-title":"Lindau. Dupuytren contracture recurrence following treatment with collagenase Clostridium histolyticum-CORDLESS [collagenase option for reduction of dupuytren long-term evaluation of safety study]): 5-year data","volume":"40","author":"Peimer","year":"2015","journal-title":"J\u00a0Hand Surg Am"},{"issue":"1","key":"10.1016\/j.jhsa.2024.10.001_bib12","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.jhsa.2012.09.028","article-title":"Dupuytren contracture recurrence following treatment with collagenase clostridium histolyticum (CORDLESS study): 3-year data","volume":"38","author":"Peimer","year":"2013","journal-title":"J\u00a0Hand Surg Am"},{"issue":"2","key":"10.1016\/j.jhsa.2024.10.001_bib13","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1097\/PRS.0b013e31823aea95","article-title":"Five-year results of a randomized clinical trial on treatment in Dupuytren\u2019s disease: percutaneous needle fasciotomy versus limited fasciectomy","volume":"129","author":"van Rijssen","year":"2012","journal-title":"Plast Reconstr Surg"},{"issue":"6","key":"10.1016\/j.jhsa.2024.10.001_bib14","doi-asserted-by":"crossref","first-page":"472.e1","DOI":"10.1016\/j.jhsa.2017.03.001","article-title":"The use of residual collagenase for single digits with multiple-joint Dupuytren contractures","volume":"42","author":"Grandizio","year":"2017","journal-title":"J\u00a0Hand Surg Am"},{"issue":"5","key":"10.1016\/j.jhsa.2024.10.001_bib15","doi-asserted-by":"crossref","first-page":"395.e1","DOI":"10.1016\/j.jhsa.2017.01.018","article-title":"Modified McCash technique for management of Dupuytren contracture","volume":"42","author":"Lesiak","year":"2017","journal-title":"J\u00a0Hand Surg Am"},{"issue":"5","key":"10.1016\/j.jhsa.2024.10.001_bib16","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1016\/j.jhsa.2011.03.002","article-title":"The treatment of Dupuytren disease","volume":"36","author":"Desai","year":"2011","journal-title":"J\u00a0Hand Surg Am"},{"issue":"12","key":"10.1016\/j.jhsa.2024.10.001_bib17","article-title":"Surgery for Dupuytren\u2019s contracture of the fingers","author":"Rodrigues","year":"2015","journal-title":"Cochrane Database Syst Rev"},{"issue":"2","key":"10.1016\/j.jhsa.2024.10.001_bib18","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1053\/jhsu.2000.jhsu25a0291","article-title":"Results following surgery for recurrent Dupuytren\u2019s disease","volume":"25","author":"Roush","year":"2000","journal-title":"J\u00a0Hand Surg Am"},{"issue":"11","key":"10.1016\/j.jhsa.2024.10.001_bib19","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/j.jhsa.2019.07.017","article-title":"Outcomes and direct costs of needle aponeurotomy, collagenase injection, and fasciectomy in the treatment of Dupuytren contracture","volume":"44","author":"Leafblad","year":"2019","journal-title":"J\u00a0Hand Surg Am"},{"issue":"10","key":"10.1016\/j.jhsa.2024.10.001_bib20","doi-asserted-by":"crossref","first-page":"1987","DOI":"10.1016\/j.jhsa.2013.05.038","article-title":"Patterns of recontracture after surgical correction of Dupuytren disease","volume":"38","author":"Dias","year":"2013","journal-title":"J\u00a0Hand Surg Am"},{"issue":"9","key":"10.1016\/j.jhsa.2024.10.001_bib21","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/j.jhsa.2022.04.019","article-title":"Finger joint contractures 5 years after treatment for Dupuytren disease: A comparative cohort study of collagenase injection versus surgical fasciectomy","volume":"47","author":"Eckerdal","year":"2022","journal-title":"J\u00a0Hand Surg Am"},{"issue":"1","key":"10.1016\/j.jhsa.2024.10.001_bib23","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/s43586-021-00056-9","article-title":"Genome-wide association studies","volume":"1","author":"Uffelmann","year":"2021","journal-title":"Nat Rev Methods Primers"},{"issue":"4","key":"10.1016\/j.jhsa.2024.10.001_bib24","doi-asserted-by":"crossref","first-page":"413","DOI":"10.2217\/pgs.13.36","article-title":"Rare-variant genome-wide association studies: a new frontier in genetic analysis of complex traits","volume":"14","author":"Wagner","year":"2013","journal-title":"Pharmacogenomics"},{"issue":"12","key":"10.1016\/j.jhsa.2024.10.001_bib25","doi-asserted-by":"crossref","first-page":"961","DOI":"10.21037\/atm-21-1635","article-title":"Rare variants: data types and analysis strategies","volume":"9","author":"Goswami","year":"2021","journal-title":"Ann Transl Med"},{"issue":"6","key":"10.1016\/j.jhsa.2024.10.001_bib26","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1038\/ng.f.136","article-title":"Common and rare variants in multifactorial susceptibility to common diseases","volume":"40","author":"Bodmer","year":"2008","journal-title":"Nat Genet"},{"issue":"1","key":"10.1016\/j.jhsa.2024.10.001_bib27","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.ajhg.2014.06.009","article-title":"Rare-variant association analysis: study designs and statistical tests","volume":"95","author":"Lee","year":"2014","journal-title":"Am J Hum Genet"},{"issue":"7","key":"10.1016\/j.jhsa.2024.10.001_bib28","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0158101","article-title":"Meta-analysis of genome-wide association studies and network analysis-based integration with gene\u00a0expression data identify new suggestive loci and unravel a Wnt-centric network associated with Dupuytren\u2019s disease","volume":"11","author":"Becker","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.jhsa.2024.10.001_bib29","doi-asserted-by":"crossref","first-page":"1172","DOI":"10.1016\/j.jhsa.2010.03.006","article-title":"Genome-wide high-resolution screening in Dupuytren\u2019s disease reveals common regions of DNA copy number alterations","volume":"35","author":"Shih","year":"2010","journal-title":"J\u00a0Hand Surg Am"},{"issue":"9","key":"10.1016\/j.jhsa.2024.10.001_bib30","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1038\/gim.2015.187","article-title":"The Geisinger MyCode community health initiative: an electronic health record\u2013linked biobank for precision medicine research","volume":"18","author":"Carey","year":"2016","journal-title":"Genet Med"},{"issue":"6","key":"10.1016\/j.jhsa.2024.10.001_bib31","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1002\/gepi.22392","article-title":"Genome-wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals","volume":"45","author":"Gao","year":"2021","journal-title":"Genet Epidemiol"},{"issue":"6319","key":"10.1016\/j.jhsa.2024.10.001_bib32","doi-asserted-by":"crossref","first-page":"6814","DOI":"10.1126\/science.aaf6814","article-title":"Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study","volume":"354","author":"Dewey","year":"2016","journal-title":"Science"},{"issue":"3","key":"10.1016\/j.jhsa.2024.10.001_bib33","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: a tool set for whole-genome association and population-based linkage analyses","volume":"81","author":"Purcell","year":"2007","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.jhsa.2024.10.001_bib34","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1016\/j.ajhg.2012.06.007","article-title":"Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies","volume":"91","author":"Lee","year":"2012","journal-title":"Am J Hum Genet"},{"issue":"14","key":"10.1016\/j.jhsa.2024.10.001_bib35","doi-asserted-by":"crossref","first-page":"4042","DOI":"10.1158\/1078-0432.CCR-06-2316","article-title":"WNT signaling pathway and stem cell signaling network","volume":"13","author":"Katoh","year":"2007","journal-title":"Clin Cancer Res"},{"issue":"10","key":"10.1016\/j.jhsa.2024.10.001_bib36","doi-asserted-by":"crossref","first-page":"E928","DOI":"10.1073\/pnas.1301100110","article-title":"Unraveling the signaling pathways promoting fibrosis in Dupuytren\u2019s disease reveals TNF as a therapeutic target","volume":"110","author":"Verjee","year":"2013","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"10.1016\/j.jhsa.2024.10.001_bib37","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/s12079-015-0312-8","article-title":"Further evidence of the involvement of the Wnt signaling pathway in\u00a0Dupuytren\u2019s disease","volume":"10","author":"Ten Dam","year":"2016","journal-title":"J\u00a0Cell Commun Signal"},{"issue":"2","key":"10.1016\/j.jhsa.2024.10.001_bib38","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.jdermsci.2016.04.015","article-title":"Dupuytren\u2019s disease susceptibility gene, EPDR1, is involved in myofibroblast contractility","volume":"83","author":"Staats","year":"2016","journal-title":"J\u00a0Dermatol Sci"},{"issue":"10","key":"10.1016\/j.jhsa.2024.10.001_bib39","first-page":"2628","article-title":"Overexpression of EPDR1 has an antitumorigenic effect on breast cancer in\u00a0vitro","volume":"13","author":"Liang","year":"2020","journal-title":"Int J Clin Exp Pathol"},{"issue":"10","key":"10.1016\/j.jhsa.2024.10.001_bib40","doi-asserted-by":"crossref","first-page":"393","DOI":"10.3390\/cancers10100393","article-title":"Prognostic values of EPDR1 hypermethylation and its inhibitory function on tumor invasion in colorectal cancer","volume":"10","author":"Chu","year":"2018","journal-title":"Cancers"},{"issue":"5","key":"10.1016\/j.jhsa.2024.10.001_bib41","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1055\/s-0033-1357119","article-title":"Common variants of the EPDR1 gene and the risk of Dupuytren\u2019s disease","volume":"45","author":"D\u0119bniak","year":"2013","journal-title":"Handchir Mikrochir Plast Chir"},{"issue":"1","key":"10.1016\/j.jhsa.2024.10.001_bib42","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/s10038-020-00845-2","article-title":"Unique roles of rare variants in the genetics of complex diseases in humans","volume":"66","author":"Momozawa","year":"2021","journal-title":"J\u00a0Hum Genet"},{"issue":"5","key":"10.1016\/j.jhsa.2024.10.001_bib43","doi-asserted-by":"crossref","first-page":"4419","DOI":"10.1007\/s13277-013-1581-6","article-title":"Loss of CSMD1 or 2 may contribute to the poor prognosis of colorectal cancer patients","volume":"35","author":"Zhang","year":"2014","journal-title":"Tumour Biol"},{"issue":"1","key":"10.1016\/j.jhsa.2024.10.001_bib44","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.biopsych.2011.01.030","article-title":"The complement control-related genes CSMD1 and CSMD2 associate to schizophrenia","volume":"70","author":"H\u00e5vik","year":"2011","journal-title":"Biol Psychiatry"},{"issue":"4","key":"10.1016\/j.jhsa.2024.10.001_bib45","doi-asserted-by":"crossref","first-page":"611","DOI":"10.3233\/CBM-170091","article-title":"High expression of TACC2 in hepatocellular carcinoma is associated with poor prognosis","volume":"22","author":"Shakya","year":"2018","journal-title":"Cancer Biomark"},{"issue":"8","key":"10.1016\/j.jhsa.2024.10.001_bib46","doi-asserted-by":"crossref","first-page":"1973","DOI":"10.1002\/cam4.736","article-title":"TACC2 (transforming acidic coiled-coil protein 2) in breast carcinoma as a potent prognostic predictor associated with cell proliferation","volume":"5","author":"Onodera","year":"2016","journal-title":"Cancer Med"},{"issue":"52","key":"10.1016\/j.jhsa.2024.10.001_bib47","doi-asserted-by":"crossref","first-page":"42848","DOI":"10.1074\/jbc.M506832200","article-title":"The Pro-regions of lysyl oxidase and lysyl oxidase-like 1 are required for deposition onto elastic fibers","volume":"280","author":"Thomassin","year":"2005","journal-title":"J\u00a0Biol Chem"},{"issue":"1","key":"10.1016\/j.jhsa.2024.10.001_bib48","doi-asserted-by":"crossref","first-page":"8207","DOI":"10.1038\/ncomms9207","article-title":"Novel PRD-like homeodomain transcription factors and retrotransposon elements in early human development","volume":"6","author":"T\u00f6h\u00f6nen","year":"2015","journal-title":"Nat Commun"},{"issue":"3","key":"10.1016\/j.jhsa.2024.10.001_bib49","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.jhsa.2016.12.010","article-title":"The risk of Dupuytren surgery in obese individuals","volume":"42","author":"Hacquebord","year":"2017","journal-title":"J\u00a0Hand Surg Am"}],"container-title":["The Journal of Hand Surgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0363502324004829?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0363502324004829?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,2,3]],"date-time":"2025-02-03T06:47:20Z","timestamp":1738565240000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0363502324004829"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2]]},"references-count":48,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["S0363502324004829"],"URL":"https:\/\/doi.org\/10.1016\/j.jhsa.2024.10.001","relation":{},"ISSN":["0363-5023"],"issn-type":[{"type":"print","value":"0363-5023"}],"subject":[],"published":{"date-parts":[[2025,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A Genome-Wide Association Study and Rare Variant Analysis for Dupuytren Disease in a North American Population","name":"articletitle","label":"Article Title"},{"value":"The Journal of Hand Surgery","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jhsa.2024.10.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 by the American Society for Surgery of the Hand. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}